ClinVar Miner

List of variants in gene GNPTAB reported as likely pathogenic by Invitae

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Total variants: 39
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HGVS dbSNP gnomAD frequency
NM_024312.5(GNPTAB):c.771G>A (p.Leu257=) rs281865025 0.00002
NM_024312.5(GNPTAB):c.1600G>A (p.Asp534Asn) rs750240374 0.00001
NM_024312.5(GNPTAB):c.3571C>T (p.Arg1191Cys) rs1481471124 0.00001
NM_024312.5(GNPTAB):c.44C>A (p.Ser15Tyr) rs281864947 0.00001
NM_024312.5(GNPTAB):c.637-6T>G rs750793712 0.00001
NC_000012.11:g.(?_102140932)_(102155551_?)del
NC_000012.11:g.(?_102158416)_(102185374_?)del
NM_024312.5(GNPTAB):c.1001G>T (p.Arg334Leu) rs281864970
NM_024312.5(GNPTAB):c.1113+1G>T
NM_024312.5(GNPTAB):c.1114-2A>G rs2137123738
NM_024312.5(GNPTAB):c.1114-8_1119del rs2137123733
NM_024312.5(GNPTAB):c.1144A>G (p.Thr382Ala)
NM_024312.5(GNPTAB):c.117+1G>T rs1324141092
NM_024312.5(GNPTAB):c.1284+1G>T rs1256349457
NM_024312.5(GNPTAB):c.1612+1G>A rs1566075180
NM_024312.5(GNPTAB):c.1613-1G>C
NM_024312.5(GNPTAB):c.1760G>A (p.Arg587Gln)
NM_024312.5(GNPTAB):c.203+1G>A
NM_024312.5(GNPTAB):c.203+2T>C rs1594242785
NM_024312.5(GNPTAB):c.204-2A>G
NM_024312.5(GNPTAB):c.242G>T (p.Trp81Leu) rs281864953
NM_024312.5(GNPTAB):c.2866C>T (p.His956Tyr) rs281865004
NM_024312.5(GNPTAB):c.2915+1G>A rs1952995034
NM_024312.5(GNPTAB):c.2957G>A (p.Arg986His) rs776312538
NM_024312.5(GNPTAB):c.3053A>G (p.Asp1018Gly) rs281865007
NM_024312.5(GNPTAB):c.3134_3135+8delinsCGTTAAGTAGATT
NM_024312.5(GNPTAB):c.3136-1G>A rs1952971551
NM_024312.5(GNPTAB):c.323+1G>A rs2137150067
NM_024312.5(GNPTAB):c.324-2A>G
NM_024312.5(GNPTAB):c.3602+2T>A rs1952850476
NM_024312.5(GNPTAB):c.571+1G>A rs1412230289
NM_024312.5(GNPTAB):c.636+1G>A rs746175107
NM_024312.5(GNPTAB):c.637-1G>A rs281864962
NM_024312.5(GNPTAB):c.637-1del
NM_024312.5(GNPTAB):c.772-1G>C rs2137125146
NM_024312.5(GNPTAB):c.772-1G>T
NM_024312.5(GNPTAB):c.772-2_786del
NM_024312.5(GNPTAB):c.933+1G>A
NM_024312.5(GNPTAB):c.933+1G>T rs1327876395

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